ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3608C>T (p.Ala1203Val)

gnomAD frequency: 0.00001  dbSNP: rs757088548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575453 SCV000672940 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-07 criteria provided, single submitter clinical testing The p.A1203V variant (also known as c.3608C>T), located in coding exon 18 of the BLM gene, results from a C to T substitution at nucleotide position 3608. The alanine at codon 1203 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000686959 SCV000814502 uncertain significance Bloom syndrome 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1203 of the BLM protein (p.Ala1203Val). This variant is present in population databases (rs757088548, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 485332). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000686959 SCV002090591 uncertain significance Bloom syndrome 2019-02-11 no assertion criteria provided clinical testing

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